Common mutations in Cuban cystic fibrosis patients.
So far, more than 1500 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Mutational spectrum varies in accordance with geographic and/or ethnic origin. In this study, we have analyzed seven common CF mutations (p.F508del, p.G542X, p.R1162X, p.N1303K, p.R334W, p.R553X and c.3120+1G>A) taking into account the ethnic origin of the Cuban population which is mainly influenced by Spanish and sub-Sahara African contribution. All but p.N1303K have been detected in our patients, the p.F508del being the most prevalent (37.9%). Overall, six mutations showed frequencies above 1% accounting for 55.5% of the Cuban CF alleles.
Collazo
Teresa
T
Centro Nacional de Genética Médica, ISCMH, Cuba. tcollazo@infomed.sld.cu
Bofill
Ana María
AM
Clark
Yulia
Y
Hernández
Yadira
Y
Gómez
Manuel
M
Rodríguez
Fidel
F
Ramos
María D
MD
Giménez
Javier
J
Casals
Teresa
T
Rojo
Manuel
M
D003462:Cuba; D003550:Cystic Fibrosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D009154:Mutation / Q000235:genetics*